ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1274G>A (p.Arg425Gln) (rs397516916)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000253534 SCV000320626 uncertain significance Cardiovascular phenotype 2015-12-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037990 SCV000061656 uncertain significance not specified 2012-11-05 criteria provided, single submitter clinical testing The Arg425Gln variant in DSP has not been reported in the literature nor previou sly identified by our laboratory. This variant has also not been identified in l arge and broad European American and African American populations by the NHLBI E xome Sequencing Project (http://evs.gs.washington.edu/EVS). Computational analys es (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and S IFT) do not provide strong support for or against an impact to the protein. Addi tional information is needed to fully assess the clinical significance of the Ar g425Gln variant.

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